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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Attenuated Adenomatous Polyposis Coli
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Accession:DOID:9002232 term browser browse the term
Synonyms:exact_synonym: Brain Tumor-Polyposis Syndrome 2
 primary_id: MESH:C566778
 alt_id: RDO:0015032


show annotations for term's descendants           Sort by:
Attenuated Adenomatous Polyposis Coli term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 ClinVar PMID:1316610 PMID:1324223 PMID:7661930 PMID:8990002 PMID:9950360 More... NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated ClinVar PMID:19617566 PMID:20551049 PMID:22461326 PMID:24038392 PMID:24357849 More... NCBI chr 1:240,595,423...240,639,625
Ensembl chr 1:240,595,394...240,640,563 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Gardner Syndrome 2
        Attenuated Adenomatous Polyposis Coli 2
Path 2
Term Annotations click to browse term
  disease 17412
    disease of cellular proliferation 7152
      Neoplasms by Site 6635
        Digestive System Neoplasms 3666
          Gastrointestinal Neoplasms 3552
            Intestinal Neoplasms 1726
              Colorectal Neoplasms 1707
                familial adenomatous polyposis 378
                  Gardner Syndrome 2
                    Attenuated Adenomatous Polyposis Coli 2
paths to the root